Varaico: Literature-Extracted Genetic Variants

PCDH10

147 papers

RefSeq Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail...

Pfam Domains

Cadherin_2aa 19–101UCSCCadherin-like

Cadherinaa 255–349UCSCCadherin domain

Cadherinaa 364–454UCSCCadherin domain

Cadherinaa 468–565UCSCCadherin domain

Cadherinaa 589–679UCSCCadherin domain

Cadherin_C_2aa 713–838UCSCCadherin cytoplasmic C-terminal

Gene Aliases

HGNC Name

protocadherin 10

HGNC Alias Symbols

OL-PCDH; KIAA1400

Papers

RefSeq ID

Protein change

DNA change

1–12 of 272 variants

4 papers

NM_032961.3

p.C763del1

c.2287_2288delTGC

3 papers

NM_032961.3

p.P253delFs

c.758_759delCC

3 papers

NM_032961.3

p.G509D

c.1526G>A

3 papers

NM_032961.3

p.L758_C759del2

c.2272_2276del6

3 papers

NM_032961.3

p.R1036Q

c.3107G>A

2 papers

NM_032961.3

p.N118fs

c.352_353fs

2 papers

NM_032961.3

p.D126Y

c.376G>T

2 papers

NM_032961.3

p.E160K

c.478G>A

2 papers

NM_032961.3

p.G209R

c.625G>A

2 papers

NM_032961.3

p.G209R

c.625G>C

2 papers

NM_032961.3

p.Y483D

c.1447T>G

2 papers

NM_032961.3

p.A484V

c.1451C>T